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Case Reports
. 2014 Apr 29:4:20.
doi: 10.4103/2156-7514.131642. eCollection 2014.

Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

Eduardo Felix Martins Santana  1 , Priscila Nogueira Oliveira Serni  1 , Liliam Cristine Rolo  1 , E Araujo Júnior  1
Affiliations
Case Reports

Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

Eduardo Felix Martins Santana et al. J Clin Imaging Sci. .

Abstract

Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28(th) week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.

Keywords: Arthogriposis; Pena-Shokeir syndrome; prenatal diagnosis; three-dimensional ultrasound; two-dimensional ultrasound.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
30-year-old nulliparous female in her second pregnancy at 28th week of pregnancy, fetus diagnosed with Pena-Shokeir syndrome. Two-dimensional ultrasound (a) longitudinal section through the fetus shows the persistent hyperextension of the spine (arrow). (b) Sagittal section shows the fetal head extension and micrognathia (arrow).
Figure 2
Figure 2
30-year-old nulliparous female in her second pregnancy at 28th week of pregnancy, fetus diagnosed with Pena-Shokeir syndrome. Three-dimensional ultrasound images in rendering mode (a) shows hyperextension of the head (white arrow) and micrognathia (red arrow), (b) shows twisting of the feet (blue arrows).
Figure 3
Figure 3
Baby born at 32nd week of gestation. Postnatal image after unsuccessful attempt to resuscitate the newborn with Pena-Shokeir syndrome. The photograph shows twisted appearance of the hands and feet (white arrows), as well as the micrognathia (red arrow).
See this image and copyright information in PMC

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